Table 3 Chromosomal microarray analysis of VSD fetuses with normal karyotyping results
From: Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
Case | CMA results | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Obstetrical outcomes | Inheritance |
|---|---|---|---|---|---|---|
1 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; RAA; vascular circle; ALSA | P (DiGeorge syndrome) | TP | de novo |
2 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; ARA; PA; thymic hypoplasia | P (DiGeorge syndrome) | TP | de novo |
3 | arr[hg19]22q11.21(18,631,364-20,729,389) × 1 | 2.0 | VSD; thymic hypoplasia | P (DiGeorge syndrome) | TP | de novo |
4 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; RAA | P (DiGeorge syndrome) | TP | de novo |
5 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; ARSA; TR; LSVC; Single umbilical artery | P (Cat Eye Syndrome) | TP | de novo |
6 | arr[hg19]22q11.1q11.21(16,888,899-18,649,190) × 4 | 1.7 | VSD; ARSA; TR; LSVC; Single umbilical artery | P (Cat Eye Syndrome) | TP | de novo |
7 | arr[hg19]17p11.2(16,567,623-18,743,354) × 3 | 2.1 | VSD; PA; FGR | P (Potocki-Lupski Syndrome) | TP | de novo |
8 | arr[hg19]Xp28(152,713,658-153,421,838) × 3 | 0.69 | VSD; TR | P | TP | de novo |
9 | arr[hg19]3q24q25.1(143,476,996-151,222,561) × 1 | 7.7 | VSD; ocular hypertelorism; widening of lateral ventricle | P | TP | de novo |
10 | arr[hg19]15q24.1q24.2(72,965,465-75,567,135) × 1 | 2.6 | VSD; PA; FGR; Absence of nasal bone | P | TP | de novo |
11 | arr[hg19]3q29(195,743,957-197,386,180) × 3 | 1.6 | VSD | P | TP | de novo |
12 | arr[hg19]7q11.23(72,701,098-74,069,645) × 3 | 1.3 | VSD; Left kidney dysplasia | P | TP | de novo |
13 | arr[hg19]16q23.2q24.3(79,800,878-90,146,366)hmz,16p13.3p12.3(94,807-19,302,326)hmz | 10.3 | VSD; PVS; Left kidney dysplasia; FGR | P | TP | UPD |
14 | arr[hg19]11P15.1P14.3(20,745,930-21,780,075) × 3 | 1.0 | VSD; Right hydronephrosis; widening of left lateral ventricle | VOUS | TP | De novo |
15 | arr[hg19]4q24(106,284,925-107,545,257) × 3 | 1.2 | VSD; ARSA; FGR | VOUS | TD | De novo |
16 | arr[hg19]9q21.33q22.1(89,868,507-90,975,015) × 3 | 1.1 | VSD | VOUS | TD | De novo |
17 | arr[hg19]16p13.11(14,897,401-16,534,031) × 1 | 0.5 | VSD; Left ventricular hyperechoic | VOUS | TD | De novo |
18 | arr[hg19]2q31.2q31.3(180,558,684-181,901,189) × 3 | 0.5 | VSD; OFB | VOUS | TD | De novo |
19 | arr[hg19]5q14.1(76,983,283-77,512,158) × 3 | 0.5 | VSD | B | TD | Maternal |
20 | arr[hg19]10q21.1(59,095,330-60,684,488) × 1 | 1.5 | VSD; TR | B | TD | Maternal |